Gene
prss12
- ID
- ZDB-GENE-090313-45
- Name
- serine protease 12
- Symbol
- prss12 Nomenclature History
- Previous Names
-
- si:ch211-152j23.2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and intellectual disability. Orthologous to human PRSS12 (serine protease 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Anderson et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 1 | Alliance | Intellectual developmental disorder, autosomal recessive 1 | 249500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR033116 | Serine proteases, trypsin family, serine active site |
| Conserved_site | IPR018056 | Kringle, conserved site |
| Domain | IPR000001 | Kringle |
| Domain | IPR001190 | SRCR domain |
| Domain | IPR001254 | Serine proteases, trypsin domain |
| Family | IPR001314 | Peptidase S1A, chymotrypsin family |
| Homologous_superfamily | IPR009003 | Peptidase S1, PA clan |
| Homologous_superfamily | IPR013806 | Kringle-like fold |
| Homologous_superfamily | IPR036772 | SRCR-like domain superfamily |
| Homologous_superfamily | IPR038178 | Kringle superfamily |
| Homologous_superfamily | IPR043504 | Peptidase S1, PA clan, chymotrypsin-like fold |
Domain Details Per Protein
| Protein | Length | Kringle | Kringle, conserved site | Kringle-like fold | Kringle superfamily | Peptidase S1A, chymotrypsin family | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine proteases, trypsin domain | Serine proteases, trypsin family, serine active site | SRCR domain | SRCR-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1QHD3
|
818 | |||||||||||
|
UniProtKB:A0A8M9PPR7
|
818 | |||||||||||
|
UniProtKB:A0A8M9Q8F7
|
660 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
prss12-201
(1)
|
Ensembl | 2,451 nt | ||
| mRNA |
prss12-202
(1)
|
Ensembl | 5,200 nt |
Interactions and Pathways
No data available
Plasmids
No data available